fc <- resSig$log2FoldChangenames(fc) <- resSig$symbolcnetplot(x, foldChange=fc)
Bonus: 基因信息检索
pload(fanyi)
── loading the package: fanyi ──
fanyi v0.0.8 Learn more at https://yulab-smu.top/
Please cite:
D Wang, G Chen, L Li, S Wen, Z Xie, X Luo, L Zhan, S Xu, J Li, R
Wang, Q Wang, G Yu. Reducing language barriers, promoting information
absorption, and communication using fanyi. Chinese Medical Journal. 2024,
137(16):1950-1956. doi: 10.1097/CM9.0000000000003242
uid name description
TSPAN6 7105 TSPAN6 tetraspanin 6
DPM1 8813 DPM1 dolichyl-phosphate mannosyltransferase subunit 1, catalytic
SCYL3 57147 SCYL3 SCY1 like pseudokinase 3
FIRRM 55732 FIRRM FIGNL1 interacting regulator of recombination and mitosis
FGR 2268 FGR FGR proto-oncogene, Src family tyrosine kinase
CFH 3075 CFH complement factor H
summary
TSPAN6 The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. The protein encoded by this gene is a cell surface glycoprotein and is highly similar in sequence to the transmembrane 4 superfamily member 2 protein. It functions as a negative regulator of retinoic acid-inducible gene I-like receptor-mediated immune signaling via its interaction with the mitochondrial antiviral signaling-centered signalosome. This gene uses alternative polyadenylation sites, and multiple transcript variants result from alternative splicing. [provided by RefSeq, Jul 2013]
DPM1 Dolichol-phosphate mannose (Dol-P-Man) serves as a donor of mannosyl residues on the lumenal side of the endoplasmic reticulum (ER). Lack of Dol-P-Man results in defective surface expression of GPI-anchored proteins. Dol-P-Man is synthesized from GDP-mannose and dolichol-phosphate on the cytosolic side of the ER by the enzyme dolichyl-phosphate mannosyltransferase. Human DPM1 lacks a carboxy-terminal transmembrane domain and signal sequence and is regulated by DPM2. Mutations in this gene are associated with congenital disorder of glycosylation type Ie. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2015]
SCYL3 This gene encodes a protein with a kinase domain and four HEAT repeats. The encoded protein interacts with the C-terminal domain of ezrin, an ERM protein, and may play a role in cell adhesion and migration. Alternative splicing results in multiple transcript variants encoding multiple isoforms. [provided by RefSeq, Jun 2012]
FIRRM Enables protein kinase binding activity. Involved in several processes, including chromosome segregation; interstrand cross-link repair; and regulation of protein kinase activity. Located in several cellular components, including midbody; nuclear lumen; and spindle midzone. [provided by Alliance of Genome Resources, Jul 2025]
FGR This gene is a member of the Src family of protein tyrosine kinases (PTKs). The encoded protein contains N-terminal sites for myristylation and palmitylation, a PTK domain, and SH2 and SH3 domains which are involved in mediating protein-protein interactions with phosphotyrosine-containing and proline-rich motifs, respectively. The protein localizes to plasma membrane ruffles, and functions as a negative regulator of cell migration and adhesion triggered by the beta-2 integrin signal transduction pathway. Infection with Epstein-Barr virus results in the overexpression of this gene. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]
CFH This gene is a member of the Regulator of Complement Activation (RCA) gene cluster and encodes a protein with twenty short consensus repeat (SCR) domains. This protein is secreted into the bloodstream and has an essential role in the regulation of complement activation, restricting this innate defense mechanism to microbial infections. Mutations in this gene have been associated with hemolytic-uremic syndrome (HUS) and chronic hypocomplementemic nephropathy. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Oct 2011]
summary2
TSPAN6 该基因编码的蛋白质是跨膜4超家族的成员，也称为tetraspanin家族。这些成员中的大多数是细胞表面蛋白，其特征是存在四个疏水结构域。这些蛋白质介导信号转导事件，在细胞发育、活化、生长和运动的调节中发挥作用。该基因编码的蛋白质是细胞表面糖蛋白，在序列上与跨膜4超家族成员2蛋白质高度相似。它通过与以线粒体抗病毒信号为中心的信号体相互作用，作为视黄酸诱导基因I样受体介导的免疫信号传导的负调节因子。该基因使用选择性多聚腺苷酸化位点，选择性剪接产生多种转录变体。【由RefSeq提供，2013年7月】
DPM1 磷酸多糖甘露糖（Dol-P-Man）作为内质网（ER）内腔侧甘露糖基残基的供体。Dol-P-Man的缺乏导致GPI锚定蛋白的表面表达缺陷。Dol-P-Man是由GDP-甘露糖和ER胞质侧的磷酸多糖醇通过磷酸多糖基甘露糖基转移酶合成的。人DPM1缺乏羧基末端跨膜结构域和信号序列，受DPM2调节。该基因的突变与先天性糖基化I型障碍有关。选择性剪接导致多种转录变体。【由RefSeq提供，2015年11月】
SCYL3 该基因编码一种具有激酶结构域和四个HEAT重复序列的蛋白质。编码的蛋白质与ERM蛋白埃兹林的C末端结构域相互作用，可能在细胞粘附和迁移中发挥作用。选择性剪接导致编码多种异构体的多种转录变体。【由RefSeq于2012年6月提供】
FIRRM 激活蛋白激酶结合活性。参与了几个过程，包括染色体分离；跨线路维修；以及蛋白激酶活性的调节。位于几个细胞组成部分，包括中体；核腔；以及纺锤体中部。[由基因组资源联盟提供，2025年7月]
FGR 该基因是蛋白酪氨酸激酶（PTKs）Src家族的成员。编码的蛋白质包含肉豆蔻酰化和棕榈酰化的N末端位点、PTK结构域以及SH2和SH3结构域，它们分别参与介导蛋白质与含磷酸酪氨酸和富含脯氨酸的基序的相互作用。该蛋白定位于质膜褶皱，并作为β2整合素信号转导途径引发的细胞迁移和粘附的负调节因子发挥作用。感染爱泼斯坦-巴尔病毒会导致该基因的过表达。已经鉴定出编码相同蛋白质的多个选择性剪接变体。【由RefSeq提供，2008年7月】
CFH 该基因是补体激活调节因子（RCA）基因簇的成员，编码一种具有20个短共有重复（SCR）结构域的蛋白质。这种蛋白质分泌到血液中，在调节补体激活中起着至关重要的作用，将这种先天防御机制限制在微生物感染中。该基因突变与溶血性尿毒症综合征（HUS）和慢性低补体肾病有关。编码不同异构体的交替转录剪接变体已被表征。【由RefSeq提供，2011年10月】
